HVCN1

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a voltage-gated protein channel protein expressed more highly in certain cells of the immune system. Phagocytic cells produce superoxide anions which require this channel protein, and in B cells this same process facilitates antibody production. This same channel protein, however, can also regulate functions in other cells including spermatozoa. Multiple transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1antigen processing and presentation of endogenous antigen (GO:0019883)5.51193679
2positive regulation of gamma-delta T cell activation (GO:0046645)5.48899684
3antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.39743235
4regulation of B cell receptor signaling pathway (GO:0050855)5.31042665
5B cell receptor signaling pathway (GO:0050853)5.06116801
6neutrophil activation involved in immune response (GO:0002283)4.75430259
7immunoglobulin mediated immune response (GO:0016064)4.71077342
8positive regulation by symbiont of host defense response (GO:0052509)4.70784859
9modulation by symbiont of host defense response (GO:0052031)4.70784859
10modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.70784859
11modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.70784859
12positive regulation by organism of defense response of other organism involved in symbiotic interact4.70784859
13modulation by symbiont of host immune response (GO:0052553)4.70784859
14respiratory burst (GO:0045730)4.68569390
15antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.64373750
16antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.64373750
17detection of other organism (GO:0098543)4.62908629
18detection of bacterium (GO:0016045)4.59558414
19leukocyte aggregation (GO:0070486)4.48171810
20regulation of B cell differentiation (GO:0045577)4.43681743
21regulation of interferon-beta biosynthetic process (GO:0045357)4.40457881
22positive regulation of B cell differentiation (GO:0045579)4.19549306
23macrophage activation involved in immune response (GO:0002281)4.04139370
24response to peptidoglycan (GO:0032494)4.01535540
25neutrophil activation (GO:0042119)3.96205801
26regulation of gamma-delta T cell differentiation (GO:0045586)3.94660415
27positive regulation of interferon-alpha production (GO:0032727)3.93676551
28negative regulation of lymphocyte mediated immunity (GO:0002707)3.91143616
29positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.87825262
30granulocyte activation (GO:0036230)3.87302087
31regulation of gamma-delta T cell activation (GO:0046643)3.84290823
32microglial cell activation (GO:0001774)3.77775267
33detection of external biotic stimulus (GO:0098581)3.77567476
34regulation of interferon-alpha production (GO:0032647)3.73113142
35B cell mediated immunity (GO:0019724)3.69177782
36negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.67445566
37negative regulation of cell killing (GO:0031342)3.67445566
38positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.65010435
39regulation of interleukin-12 biosynthetic process (GO:0045075)3.62238315
40positive thymic T cell selection (GO:0045059)3.62042960
41regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)3.59955992
42defense response to protozoan (GO:0042832)3.58889177
43negative regulation of T cell mediated immunity (GO:0002710)3.53617559
44positive regulation of antigen processing and presentation (GO:0002579)3.53312039
45negative regulation of leukocyte mediated immunity (GO:0002704)3.48037272
46positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.45203560
47natural killer cell mediated immunity (GO:0002228)3.44244904
48natural killer cell mediated cytotoxicity (GO:0042267)3.44244904
49interferon-gamma-mediated signaling pathway (GO:0060333)3.43264960
50positive regulation of interleukin-8 biosynthetic process (GO:0045416)3.38827818
51NIK/NF-kappaB signaling (GO:0038061)3.38806500
52macrophage activation (GO:0042116)3.34464982
53regulation of antigen receptor-mediated signaling pathway (GO:0050854)3.33514852
54mature B cell differentiation (GO:0002335)3.32721237
55detection of biotic stimulus (GO:0009595)3.32556118
56negative regulation of phagocytosis (GO:0050765)3.30229710
57negative thymic T cell selection (GO:0045060)3.29295007
58detection of molecule of bacterial origin (GO:0032490)3.28752416
59myeloid cell activation involved in immune response (GO:0002275)3.28668161
60T cell selection (GO:0045058)3.28304602
61B cell proliferation (GO:0042100)3.26977216
62regulation of T cell mediated cytotoxicity (GO:0001914)3.26023178
63leukocyte mediated cytotoxicity (GO:0001909)3.25492131
64regulation of natural killer cell mediated immunity (GO:0002715)3.22239376
65regulation of natural killer cell mediated cytotoxicity (GO:0042269)3.22239376
66positive regulation of interferon-gamma biosynthetic process (GO:0045078)3.21584423
67Arp2/3 complex-mediated actin nucleation (GO:0034314)3.20770750
68regulation of mast cell activation involved in immune response (GO:0033006)3.19182598
69regulation of T cell tolerance induction (GO:0002664)3.17653133
70response to protozoan (GO:0001562)3.16982131
71antigen processing and presentation via MHC class Ib (GO:0002475)3.15946171
72positive T cell selection (GO:0043368)3.15688928
73neutrophil mediated immunity (GO:0002446)3.15451731
74myeloid dendritic cell activation (GO:0001773)3.15432065
75negative T cell selection (GO:0043383)3.14360939
76positive regulation of T cell mediated cytotoxicity (GO:0001916)3.14038990
77positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)3.12323096
78hydrogen peroxide biosynthetic process (GO:0050665)3.11798044
79T cell migration (GO:0072678)3.10834266
80myeloid dendritic cell differentiation (GO:0043011)3.09394080
81response to muramyl dipeptide (GO:0032495)3.08786515
82lipopolysaccharide-mediated signaling pathway (GO:0031663)3.08477619
83cellular extravasation (GO:0045123)3.08274111
84negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.08273062
85negative regulation of antigen receptor-mediated signaling pathway (GO:0050858)3.07341318
86negative regulation of B cell proliferation (GO:0030889)3.07179751
87tolerance induction (GO:0002507)3.06759290
88CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)3.06531205
89response to host immune response (GO:0052572)3.06173097
90response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.06173097
91reactive oxygen species biosynthetic process (GO:1903409)3.06079760
92regulation of dendritic cell antigen processing and presentation (GO:0002604)3.04999375
93positive regulation of cytokine biosynthetic process (GO:0042108)3.04056069
94leukocyte cell-cell adhesion (GO:0007159)3.03483849
95production of molecular mediator involved in inflammatory response (GO:0002532)3.01694669
96regulation of B cell proliferation (GO:0030888)3.00511720
97T-helper 1 type immune response (GO:0042088)2.99910181
98negative regulation of innate immune response (GO:0045824)2.98325603
99regulation of myeloid leukocyte mediated immunity (GO:0002886)2.98091689
100positive regulation of interleukin-2 production (GO:0032743)2.98006577
101positive regulation of interferon-beta production (GO:0032728)2.97992727
102JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)2.96520555
103regulation of alpha-beta T cell proliferation (GO:0046640)2.96381056
104negative regulation of interleukin-12 production (GO:0032695)2.96328079
105regulation of antigen processing and presentation (GO:0002577)2.95457573
106germinal center formation (GO:0002467)2.91094625
107antigen receptor-mediated signaling pathway (GO:0050851)2.89515670
108regulation of mast cell degranulation (GO:0043304)2.89269250
109thymic T cell selection (GO:0045061)2.88452903
110response to interleukin-15 (GO:0070672)2.88094596
111response to type I interferon (GO:0034340)2.87991477
112positive regulation of chemokine biosynthetic process (GO:0045080)2.85700358
113type I interferon signaling pathway (GO:0060337)2.85298554
114cellular response to type I interferon (GO:0071357)2.85298554
115lymphocyte mediated immunity (GO:0002449)2.84281995
116regulation of mast cell activation (GO:0033003)2.83932209
117positive regulation of mast cell activation (GO:0033005)2.83237044
118response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.82752151
119response to host (GO:0075136)2.82752151
120response to host defenses (GO:0052200)2.82752151
121regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.82099049
122B cell homeostasis (GO:0001782)2.81595720
123cellular response to interleukin-15 (GO:0071350)2.81407195
124response to fungus (GO:0009620)2.81051081
125positive regulation of mast cell activation involved in immune response (GO:0033008)2.80453164
126positive regulation of mast cell degranulation (GO:0043306)2.80453164
127positive regulation of B cell activation (GO:0050871)2.79626177
128superoxide anion generation (GO:0042554)2.77407271

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human6.26026674
2IRF8_21731497_ChIP-ChIP_J774_Mouse5.39008689
3FOXP3_17237761_ChIP-ChIP_TREG_Mouse4.13909423
4BP1_19119308_ChIP-ChIP_Hs578T_Human4.09495210
5IRF8_22096565_ChIP-ChIP_GC-B_Mouse4.09387062
6E2F7_22180533_ChIP-Seq_HELA_Human3.74398378
7IRF8_27001747_Chip-Seq_BMDM_Mouse3.58010972
8STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.56627496
9SPI1_22096565_ChIP-ChIP_GC-B_Mouse3.48527066
10MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.47679596
11EGR1_19374776_ChIP-ChIP_THP-1_Human3.43290650
12SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.21947581
13* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.99745895
14MYC_22102868_ChIP-Seq_BL_Human2.96762208
15MYB_21317192_ChIP-Seq_ERMYB_Mouse2.76101212
16IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.76072323
17VDR_21846776_ChIP-Seq_THP-1_Human2.56991307
18STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.50287942
19STAT4_19710469_ChIP-ChIP_TH1__Mouse2.46619638
20* SPI1_23547873_ChIP-Seq_NB4_Human2.43521835
21NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.32929823
22MYB_26560356_Chip-Seq_TH2_Human2.32510553
23NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.29141661
24FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.21713594
25MAF_26560356_Chip-Seq_TH1_Human2.21008180
26SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.18605857
27RUNX_20019798_ChIP-Seq_JUKART_Human2.12722952
28* BRD4_27068464_Chip-Seq_AML-cells_Mouse2.11515536
29VDR_24763502_ChIP-Seq_THP-1_Human2.11346140
30* Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.09200180
31ASXL1_24218140_ChIP-Seq_BMDM_Mouse2.08468177
32RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.08058837
33MYB_26560356_Chip-Seq_TH1_Human2.06195647
34E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human2.05862930
35RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.95803378
36RUNX1_22412390_ChIP-Seq_EML_Mouse1.94275780
37UTX_26944678_Chip-Seq_JUKART_Human1.88924483
38FOXM1_23109430_ChIP-Seq_U2OS_Human1.81070558
39SCL_19346495_ChIP-Seq_HPC-7_Human1.78557105
40SPI1_23127762_ChIP-Seq_K562_Human1.74876087
41FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.73355207
42TCF7_22412390_ChIP-Seq_EML_Mouse1.55889272
43PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.55326439
44MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.54509892
45* CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.48838760
46SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.47377080
47STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.47025820
48PU_27001747_Chip-Seq_BMDM_Mouse1.46277690
49GATA3_27048872_Chip-Seq_THYMUS_Human1.44118854
50CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.40435212
51MAF_26560356_Chip-Seq_TH2_Human1.40181087
52GATA2_22383799_ChIP-Seq_G1ME_Mouse1.39298591
53* CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.38551752
54VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.38152951
55TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.30227407
56VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.27469990
57KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.27454385
58NOTCH1_21737748_ChIP-Seq_TLL_Human1.23691721
59NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.22917348
60LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.20410580
61EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.17282662
62ELK3_25401928_ChIP-Seq_HUVEC_Human1.16884039
63* CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.16459958
64GATA1_22383799_ChIP-Seq_G1ME_Mouse1.14525080
65BCOR_27268052_Chip-Seq_Bcells_Human1.14377406
66* SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.13830259
67KDM2B_26808549_Chip-Seq_DND41_Human1.13719894
68GATA3_26560356_Chip-Seq_TH2_Human1.13619407
69GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.13178600
70TFEB_21752829_ChIP-Seq_HELA_Human1.12710992
71PU.1_20513432_ChIP-Seq_Bcells_Mouse1.11126195
72KDM2B_26808549_Chip-Seq_SUP-B15_Human1.10669215
73* CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.10644782
74HOXB4_20404135_ChIP-ChIP_EML_Mouse1.07249973
75KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.05894175
76* PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.04280083
77CIITA_25753668_ChIP-Seq_RAJI_Human1.02237053
78GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.02017731
79VDR_24787735_ChIP-Seq_THP-1_Human1.01862456
80SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.00704278
81SMRT_27268052_Chip-Seq_Bcells_Human1.00475256
82GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.00278454
83* PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.99766804
84ERG_20887958_ChIP-Seq_HPC-7_Mouse0.99134690
85ELF1_17652178_ChIP-ChIP_JURKAT_Human0.97700047
86TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.96091302
87STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.95428032
88LXR_22292898_ChIP-Seq_THP-1_Human0.95112063
89GATA1_19941826_ChIP-Seq_K562_Human0.93566977
90PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.93550188
91GATA1_22025678_ChIP-Seq_K562_Human0.92534460
92E2F4_17652178_ChIP-ChIP_JURKAT_Human0.92374241
93BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.92209878
94STAT1_20625510_ChIP-Seq_HELA_Human0.92030206
95GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.90448268
96RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.89870234
97EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.89081346
98THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.87959157
99STAT6_21828071_ChIP-Seq_BEAS2B_Human0.86014272
100RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.85483751
101TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.84891119
102ELF1_20517297_ChIP-Seq_JURKAT_Human0.84103613
103SMAD_19615063_ChIP-ChIP_OVARY_Human0.82730908
104LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.81877191
105RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.81161632
106VDR_23849224_ChIP-Seq_CD4+_Human0.80578104
107GATA1_19941827_ChIP-Seq_MEL_Mouse0.77650708
108NCOR1_26117541_ChIP-Seq_K562_Human0.76221456
109SPI1_20517297_ChIP-Seq_HL60_Human0.75979420
110P300_27268052_Chip-Seq_Bcells_Human0.75674537
111SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.73364049
112BCL6_27268052_Chip-Seq_Bcells_Human0.72436739
113IKZF1_21737484_ChIP-ChIP_HCT116_Human0.72277704
114FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human0.70049333
115FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.69581333
116FOXP3_21729870_ChIP-Seq_TREG_Human0.66766069
117E2F1_21310950_ChIP-Seq_MCF-7_Human0.65651145
118CTCF_26484167_Chip-Seq_Bcells_Mouse0.64417160

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation5.12236651
2MP0003303_peritoneal_inflammation3.69834722
3MP0005387_immune_system_phenotype3.66313240
4MP0001790_abnormal_immune_system3.66313240
5MP0001800_abnormal_humoral_immune3.63715472
6MP0005000_abnormal_immune_tolerance3.37026325
7MP0003436_decreased_susceptibility_to3.33088363
8* MP0002452_abnormal_antigen_presenting3.26301731
9MP0005671_abnormal_response_to3.20441451
10MP0000685_abnormal_immune_system3.13413195
11MP0009785_altered_susceptibility_to3.10731481
12MP0002723_abnormal_immune_serum2.92609389
13MP0002148_abnormal_hypersensitivity_rea2.91444349
14* MP0002419_abnormal_innate_immunity2.90501593
15* MP0002420_abnormal_adaptive_immunity2.80428078
16* MP0001819_abnormal_immune_cell2.77871901
17MP0005025_abnormal_response_to2.77676076
18MP0006082_CNS_inflammation2.45840164
19MP0002398_abnormal_bone_marrow2.33821987
20MP0004510_myositis2.32017262
21MP0000716_abnormal_immune_system2.26219440
22MP0002405_respiratory_system_inflammati2.21129165
23MP0005058_abnormal_lysosome_morphology2.05846524
24MP0000689_abnormal_spleen_morphology2.05603996
25MP0003763_abnormal_thymus_physiology2.04461048
26MP0005464_abnormal_platelet_physiology2.00583816
27MP0001845_abnormal_inflammatory_respons1.93229188
28MP0001853_heart_inflammation1.87767252
29MP0002429_abnormal_blood_cell1.86489711
30MP0002722_abnormal_immune_system1.84068449
31MP0009333_abnormal_splenocyte_physiolog1.81901990
32MP0003172_abnormal_lysosome_physiology1.79101813
33MP0004947_skin_inflammation1.77876508
34MP0003724_increased_susceptibility_to1.76336696
35MP0010155_abnormal_intestine_physiology1.68176322
36MP0002006_tumorigenesis1.64850721
37MP0002166_altered_tumor_susceptibility1.64193742
38MP0005310_abnormal_salivary_gland1.60224329
39MP0001533_abnormal_skeleton_physiology1.56104030
40MP0003300_gastrointestinal_ulcer1.53930073
41MP0003191_abnormal_cellular_cholesterol1.41567266
42MP0001873_stomach_inflammation1.41341843
43MP0008469_abnormal_protein_level1.39903888
44MP0003183_abnormal_peptide_metabolism1.39466230
45MP0003448_altered_tumor_morphology1.39317624
46MP0002396_abnormal_hematopoietic_system1.35543004
47MP0002132_abnormal_respiratory_system1.31424682
48MP0002933_joint_inflammation1.31114044
49MP0000858_altered_metastatic_potential1.29041875
50MP0009278_abnormal_bone_marrow1.26173713
51MP0004381_abnormal_hair_follicle1.25787044
52MP0000703_abnormal_thymus_morphology1.24002026
53MP0005075_abnormal_melanosome_morpholog1.23221015
54MP0004808_abnormal_hematopoietic_stem1.21144580
55MP0005397_hematopoietic_system_phenotyp1.13360731
56MP0001545_abnormal_hematopoietic_system1.13360731
57MP0000465_gastrointestinal_hemorrhage1.12352982
58MP0005174_abnormal_tail_pigmentation1.10757390
59MP0009764_decreased_sensitivity_to1.10436526
60MP0000343_altered_response_to1.07109438
61MP0010352_gastrointestinal_tract_polyps1.06556778
62MP0002277_abnormal_respiratory_mucosa1.06445335
63MP0002998_abnormal_bone_remodeling1.05528896
64MP0004883_abnormal_blood_vessel1.04570850
65MP0010307_abnormal_tumor_latency1.04536405
66MP0000569_abnormal_digit_pigmentation1.03856107
67MP0005076_abnormal_cell_differentiation1.03130068
68MP0003866_abnormal_defecation1.01791066
69MP0001986_abnormal_taste_sensitivity0.97118237
70MP0000490_abnormal_crypts_of0.95698691
71MP0008057_abnormal_DNA_replication0.94926138
72MP0005166_decreased_susceptibility_to0.93440451
73MP0002019_abnormal_tumor_incidence0.92247954
74MP0009840_abnormal_foam_cell0.91890791
75MP0001851_eye_inflammation0.91275930
76MP0003075_altered_response_to0.90115851
77MP0003566_abnormal_cell_adhesion0.87336170
78MP0003045_fibrosis0.83654164
79MP0003693_abnormal_embryo_hatching0.79722085
80MP0002928_abnormal_bile_duct0.79560829
81MP0002136_abnormal_kidney_physiology0.77908739
82MP0003077_abnormal_cell_cycle0.77905992
83MP0008260_abnormal_autophagy0.75576016
84MP0000371_diluted_coat_color0.74869000
85MP0000015_abnormal_ear_pigmentation0.73850337
86MP0009763_increased_sensitivity_to0.72959945
87MP0003828_pulmonary_edema0.71236591
88MP0002693_abnormal_pancreas_physiology0.70798117
89MP0010094_abnormal_chromosome_stability0.67831273
90MP0000604_amyloidosis0.67669331
91MP0008874_decreased_physiological_sensi0.67367745
92MP0000249_abnormal_blood_vessel0.67310476
93MP0003091_abnormal_cell_migration0.66172963
94MP0005390_skeleton_phenotype0.64030032
95MP0003453_abnormal_keratinocyte_physiol0.63386161
96MP0003806_abnormal_nucleotide_metabolis0.61583848
97MP0005451_abnormal_body_composition0.60424046
98MP0005023_abnormal_wound_healing0.59821712
99MP0001663_abnormal_digestive_system0.59512644
100MP0004782_abnormal_surfactant_physiolog0.55598932
101MP0003186_abnormal_redox_activity0.55424757
102MP0005084_abnormal_gallbladder_morpholo0.55337742
103MP0000313_abnormal_cell_death0.55217521
104MP0003795_abnormal_bone_structure0.54504739
105MP0006054_spinal_hemorrhage0.54084457
106MP0005645_abnormal_hypothalamus_physiol0.52578307
107MP0003252_abnormal_bile_duct0.52429996
108MP0002138_abnormal_hepatobiliary_system0.52316457
109MP0008873_increased_physiological_sensi0.51924934
110MP0001348_abnormal_lacrimal_gland0.51784589
111MP0009765_abnormal_xenobiotic_induced0.51458140
112MP0005621_abnormal_cell_physiology0.50044690
113MP0005164_abnormal_response_to0.49347563
114MP0005257_abnormal_intraocular_pressure0.49003324
115MP0003656_abnormal_erythrocyte_physiolo0.48541491
116MP0002653_abnormal_ependyma_morphology0.48399473
117MP0003690_abnormal_glial_cell0.48171691
118MP0004130_abnormal_muscle_cell0.45322053
119MP0008004_abnormal_stomach_pH0.43595800
120MP0005167_abnormal_blood-brain_barrier0.41622200

Predicted human phenotypes

RankGene SetZ-score
1Recurrent abscess formation (HP:0002722)6.66203341
2Eczematoid dermatitis (HP:0000976)6.30130906
3Recurrent bacterial skin infections (HP:0005406)5.99964141
4Recurrent gram-negative bacterial infections (HP:0005420)5.17931648
5Agammaglobulinemia (HP:0004432)5.04250064
6Cellulitis (HP:0100658)4.79383286
7Mediastinal lymphadenopathy (HP:0100721)4.67681628
8Gastrointestinal stroma tumor (HP:0100723)4.52476467
9Recurrent viral infections (HP:0004429)4.41070191
10Recurrent fungal infections (HP:0002841)4.39285312
11Recurrent bronchitis (HP:0002837)4.23289651
12Recurrent skin infections (HP:0001581)4.18095293
13Autoimmune thrombocytopenia (HP:0001973)4.14685734
14IgM deficiency (HP:0002850)4.11001153
15Abnormality of macrophages (HP:0004311)4.06236347
16Obstructive lung disease (HP:0006536)4.05596552
17Chronic obstructive pulmonary disease (HP:0006510)4.05596552
18Meningitis (HP:0001287)4.01941495
19Vasculitis (HP:0002633)3.89297780
20Colitis (HP:0002583)3.88960842
21Recurrent sinusitis (HP:0011108)3.85437716
22Gastrointestinal infarctions (HP:0005244)3.78337989
23Recurrent cutaneous fungal infections (HP:0011370)3.76714083
24Chronic mucocutaneous candidiasis (HP:0002728)3.76714083
25Inflammation of the large intestine (HP:0002037)3.60171599
26Lymphopenia (HP:0001888)3.57223692
27Abnormal delayed hypersensitivity skin test (HP:0002963)3.56306184
28Chronic otitis media (HP:0000389)3.52284842
29Gingivitis (HP:0000230)3.51337811
30Elevated erythrocyte sedimentation rate (HP:0003565)3.51110815
31Abnormality of cells of the lymphoid lineage (HP:0012140)3.50546202
32Gastrointestinal inflammation (HP:0004386)3.46811546
33Recurrent pneumonia (HP:0006532)3.46317807
34Stomatitis (HP:0010280)3.39268059
35Osteomyelitis (HP:0002754)3.37705276
36Recurrent lower respiratory tract infections (HP:0002783)3.30339324
37Myositis (HP:0100614)3.24112427
38Keratoconjunctivitis sicca (HP:0001097)3.23212617
39Emphysema (HP:0002097)3.20106619
40Keratoconjunctivitis (HP:0001096)3.08863301
41Panhypogammaglobulinemia (HP:0003139)3.05373952
42Vacuolated lymphocytes (HP:0001922)2.98337322
43Papilloma (HP:0012740)2.97048923
44Verrucae (HP:0200043)2.97048923
45Abnormality of T cell number (HP:0011839)2.96857210
46Interstitial pulmonary disease (HP:0006530)2.92839038
47Restrictive lung disease (HP:0002091)2.90487481
48Abnormality of T cells (HP:0002843)2.87242905
49T lymphocytopenia (HP:0005403)2.86988891
50Pustule (HP:0200039)2.85694818
51Periodontitis (HP:0000704)2.83840649
52IgA deficiency (HP:0002720)2.79485139
53Pulmonary infiltrates (HP:0002113)2.78660130
54Thrombocytosis (HP:0001894)2.78307906
55Chronic sinusitis (HP:0011109)2.75319493
56Abnormality of T cell physiology (HP:0011840)2.71746103
57Sepsis (HP:0100806)2.71635953
58Pulmonary embolism (HP:0002204)2.68115307
59Hypochromic anemia (HP:0001931)2.67177982
60Increased cerebral lipofuscin (HP:0011813)2.64915100
61Prolonged bleeding time (HP:0003010)2.61795730
62IgG deficiency (HP:0004315)2.61414849
63Anorexia (HP:0002039)2.59046068
64Orchitis (HP:0100796)2.57104790
65Thyroiditis (HP:0100646)2.55797364
66Abnormality of glycolipid metabolism (HP:0010969)2.53184994
67Abnormality of liposaccharide metabolism (HP:0010968)2.53184994
68Abnormality of glycosphingolipid metabolism (HP:0004343)2.53184994
69Optic neuritis (HP:0100653)2.52701975
70Retrobulbar optic neuritis (HP:0100654)2.52701975
71Leukocytosis (HP:0001974)2.50523761
72Systemic lupus erythematosus (HP:0002725)2.48332228
73Urticaria (HP:0001025)2.47953944
74Hypochromic microcytic anemia (HP:0004840)2.45616689
75Epistaxis (HP:0000421)2.44545955
76Abnormality of the prostate (HP:0008775)2.44190413
77Eosinophilia (HP:0001880)2.42685531
78Gingival bleeding (HP:0000225)2.37545784
79Abnormality of the pleura (HP:0002103)2.37447337
80Nasal polyposis (HP:0100582)2.37004565
81Skin ulcer (HP:0200042)2.34894079
82Spontaneous hematomas (HP:0007420)2.32530508
83Skin rash (HP:0000988)2.31070260
84Bronchitis (HP:0012387)2.31032202
85Chronic diarrhea (HP:0002028)2.30388123
86Increased neuronal autofluorescent lipopigment (HP:0002074)2.29554555
87Dysostosis multiplex (HP:0000943)2.27292967
88Gangrene (HP:0100758)2.27184717
89Basal ganglia calcification (HP:0002135)2.26070980
90Agnosia (HP:0010524)2.25110678
91Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.24665467
92Combined immunodeficiency (HP:0005387)2.22534601
93Leukopenia (HP:0001882)2.22103962
94B lymphocytopenia (HP:0010976)2.21655222
95Abnormality of B cell number (HP:0010975)2.21655222
96Hematochezia (HP:0002573)2.21292327
97Disinhibition (HP:0000734)2.20001328
98Hypergammaglobulinemia (HP:0010702)2.18039475
99Lymphoma (HP:0002665)2.17907051
100Petechiae (HP:0000967)2.17778817
101Increased IgM level (HP:0003496)2.17464532
102Encephalitis (HP:0002383)2.16927956
103Granulocytopenia (HP:0001913)2.14702040
104Hemoptysis (HP:0002105)2.12518557
105Microcytic anemia (HP:0001935)2.12467588
106Viral hepatitis (HP:0006562)2.11950262
107Abnormality of eosinophils (HP:0001879)2.10830849
108Arterial thrombosis (HP:0004420)2.09777611
109Arthralgia (HP:0002829)2.08231393
110Increased IgE level (HP:0003212)2.07843442
111Episodic fever (HP:0001954)2.07383468
112Chest pain (HP:0100749)2.05986760
113Purpura (HP:0000979)2.05225875
114Abnormality of the nasal mucosa (HP:0000433)2.04921121
115Polyneuropathy (HP:0001271)2.03468480
116Autoimmune hemolytic anemia (HP:0001890)2.00479667
117Hypertensive crisis (HP:0100735)1.99963444
118Recurrent otitis media (HP:0000403)1.98579770
119Myocardial infarction (HP:0001658)1.94782217
120Mucopolysacchariduria (HP:0008155)1.93701840

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K15.78563143
2RIPK43.76618710
3BLK3.68212767
4MAP3K143.08972196
5IRAK42.66839820
6TYK22.55792402
7TBK12.53884377
8ERN12.48140932
9CSF1R2.37016698
10STK102.29521946
11SYK2.25836813
12PRPF4B2.19157522
13GRK62.17685874
14IRAK32.10531861
15JAK32.09744347
16BTK2.05191610
17MAP3K101.88832296
18MAP3K131.86262409
19TXK1.85617807
20KIT1.84344963
21IKBKB1.84169453
22ZAP701.82812763
23JAK11.78685476
24IKBKE1.70388309
25LRRK21.66108612
26CSK1.63682878
27TGFBR21.59511843
28HCK1.52539448
29LYN1.51635893
30RPS6KA41.36118870
31MARK31.35800864
32PBK1.35325877
33MST41.33824903
34LCK1.32287641
35TEC1.30901035
36ITK1.30076759
37CLK11.29865001
38CDK191.20854592
39PIM11.18484637
40FES1.08245198
41MAP2K31.03067008
42CHUK1.02851996
43MAP3K31.00907432
44SIK20.99225079
45TRIB30.98291601
46STK40.94670946
47PKN20.91882977
48MAP3K10.90239831
49CDK120.86661021
50SIK30.84588313
51JAK20.82989191
52FGFR30.82647072
53TAOK10.82593615
54EPHB10.82098119
55PRKCQ0.81862957
56EEF2K0.79648012
57FGR0.79259031
58MATK0.78019580
59IRAK10.76815653
60PRKCH0.74830978
61NME20.70233440
62NEK20.70198113
63TESK20.69645395
64FGFR40.69467677
65MAPK70.68471071
66NEK90.68404810
67IRAK20.66116592
68CDK40.64039040
69ABL10.63858759
70EIF2AK30.63700599
71KSR20.61888778
72MARK20.59598173
73KDR0.58707233
74ALK0.58348081
75CDC42BPA0.55942185
76PRKD20.54492248
77TLK10.53691558
78PDK10.53005187
79MAP3K80.52558101
80TAOK30.50324419
81STK110.49603501
82PTK2B0.49572838
83HIPK20.48103560
84PIM20.46892239
85* PRKCD0.46784954
86EGFR0.46246941
87BMX0.45939831
88SMG10.45912890
89SCYL20.45037563
90CAMK1D0.44508511
91PASK0.43314526
92CAMKK20.43159769
93NLK0.43103150
94ACVR1B0.42929776
95SGK20.41656429
96GRK70.41536805
97TAOK20.40574495
98PIK3CG0.40255634
99MELK0.39872618
100MAP2K60.39789366
101MAP3K70.39153520
102MAPK110.38512913
103TTN0.38053050
104CAMKK10.37804593
105SGK30.37651542
106GRK10.37607120
107FYN0.36636451
108TNK20.35791122
109BMPR20.35551967
110MAP2K20.34900098
111MAPKAPK20.34606153
112TRPM70.33385355
113INSR0.33230803
114PTK60.33104144
115RPS6KA60.32866368
116PAK40.32467392
117CDK60.30727949
118STK240.30557985
119TESK10.30520756
120MAP3K50.29528132
121ABL20.29318558
122FLT30.26770804
123YES10.26661430
124MAP3K110.25401190
125EPHA30.24681686
126MAPK40.22693191
127RPS6KL10.21668864
128RPS6KC10.21668864
129PDPK10.19945750
130EIF2AK10.19817973
131MAPK120.18450439

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053403.57602931
2B cell receptor signaling pathway_Homo sapiens_hsa046623.43592894
3Leishmaniasis_Homo sapiens_hsa051403.16874242
4NF-kappa B signaling pathway_Homo sapiens_hsa040642.84025413
5Osteoclast differentiation_Homo sapiens_hsa043802.60814963
6Intestinal immune network for IgA production_Homo sapiens_hsa046722.34435640
7Antigen processing and presentation_Homo sapiens_hsa046122.27780798
8Graft-versus-host disease_Homo sapiens_hsa053322.26510607
9Hematopoietic cell lineage_Homo sapiens_hsa046402.17228179
10Toll-like receptor signaling pathway_Homo sapiens_hsa046202.14567868
11Tuberculosis_Homo sapiens_hsa051522.07148017
12Measles_Homo sapiens_hsa051622.01075882
13Staphylococcus aureus infection_Homo sapiens_hsa051501.99100077
14Legionellosis_Homo sapiens_hsa051341.98446403
15Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.96837252
16Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.93150240
17NOD-like receptor signaling pathway_Homo sapiens_hsa046211.88623692
18Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.88602801
19Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.82324062
20Allograft rejection_Homo sapiens_hsa053301.77499113
21RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.69181958
22Pertussis_Homo sapiens_hsa051331.67274196
23Malaria_Homo sapiens_hsa051441.65351669
24T cell receptor signaling pathway_Homo sapiens_hsa046601.60871726
25Herpes simplex infection_Homo sapiens_hsa051681.59065868
26Lysosome_Homo sapiens_hsa041421.58081703
27Glycosaminoglycan degradation_Homo sapiens_hsa005311.52879435
28Influenza A_Homo sapiens_hsa051641.48612883
29Other glycan degradation_Homo sapiens_hsa005111.47954135
30Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.47713400
31Toxoplasmosis_Homo sapiens_hsa051451.46682328
32Asthma_Homo sapiens_hsa053101.46508888
33Chemokine signaling pathway_Homo sapiens_hsa040621.45614800
34Shigellosis_Homo sapiens_hsa051311.43308543
35TNF signaling pathway_Homo sapiens_hsa046681.39972800
36Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.38589676
37Apoptosis_Homo sapiens_hsa042101.38156282
38Salmonella infection_Homo sapiens_hsa051321.37480044
39Rheumatoid arthritis_Homo sapiens_hsa053231.34696320
40Jak-STAT signaling pathway_Homo sapiens_hsa046301.30140651
41Leukocyte transendothelial migration_Homo sapiens_hsa046701.29854043
42Hepatitis B_Homo sapiens_hsa051611.20256096
43Phagosome_Homo sapiens_hsa041451.15800092
44Viral myocarditis_Homo sapiens_hsa054161.15705041
45Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.10601318
46Type I diabetes mellitus_Homo sapiens_hsa049401.10295912
47Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.09558882
48African trypanosomiasis_Homo sapiens_hsa051431.07919171
49Epstein-Barr virus infection_Homo sapiens_hsa051691.06266753
50Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.05451797
51Acute myeloid leukemia_Homo sapiens_hsa052211.00501992
52Base excision repair_Homo sapiens_hsa034100.99587435
53AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.94742043
54DNA replication_Homo sapiens_hsa030300.92877996
55Pancreatic cancer_Homo sapiens_hsa052120.92800353
56Chronic myeloid leukemia_Homo sapiens_hsa052200.89377567
57Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.88170477
58Neurotrophin signaling pathway_Homo sapiens_hsa047220.87229051
59Platelet activation_Homo sapiens_hsa046110.86199449
60Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.84329737
61Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.82715251
62Autoimmune thyroid disease_Homo sapiens_hsa053200.78440206
63Hepatitis C_Homo sapiens_hsa051600.77882990
64Viral carcinogenesis_Homo sapiens_hsa052030.73870737
65Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.71706772
66Mismatch repair_Homo sapiens_hsa034300.69894058
67HTLV-I infection_Homo sapiens_hsa051660.66619390
68Transcriptional misregulation in cancer_Homo sapiens_hsa052020.64346414
69VEGF signaling pathway_Homo sapiens_hsa043700.58014439
70Non-small cell lung cancer_Homo sapiens_hsa052230.57653969
71Homologous recombination_Homo sapiens_hsa034400.48452504
72SNARE interactions in vesicular transport_Homo sapiens_hsa041300.47404641
73Prolactin signaling pathway_Homo sapiens_hsa049170.46623113
74Carbohydrate digestion and absorption_Homo sapiens_hsa049730.46526053
75Small cell lung cancer_Homo sapiens_hsa052220.45922422
76Endocytosis_Homo sapiens_hsa041440.45721453
77Sphingolipid signaling pathway_Homo sapiens_hsa040710.44636421
78HIF-1 signaling pathway_Homo sapiens_hsa040660.43307239
79p53 signaling pathway_Homo sapiens_hsa041150.40877667
80Colorectal cancer_Homo sapiens_hsa052100.40382957
81Amoebiasis_Homo sapiens_hsa051460.40002543
82Dorso-ventral axis formation_Homo sapiens_hsa043200.37470659
83Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.35922148
84Regulation of actin cytoskeleton_Homo sapiens_hsa048100.35763027
85alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.35052872
86Regulation of autophagy_Homo sapiens_hsa041400.35009765
87Phospholipase D signaling pathway_Homo sapiens_hsa040720.34473013
88mTOR signaling pathway_Homo sapiens_hsa041500.34253902
89FoxO signaling pathway_Homo sapiens_hsa040680.34040550
90Collecting duct acid secretion_Homo sapiens_hsa049660.33888544
91Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.33874456
92Glycerophospholipid metabolism_Homo sapiens_hsa005640.33336058
93Non-homologous end-joining_Homo sapiens_hsa034500.33299781
94Adipocytokine signaling pathway_Homo sapiens_hsa049200.33259672
95Notch signaling pathway_Homo sapiens_hsa043300.31203683
96Insulin resistance_Homo sapiens_hsa049310.31082032
97GnRH signaling pathway_Homo sapiens_hsa049120.31054007
98Pentose phosphate pathway_Homo sapiens_hsa000300.30160593
99MicroRNAs in cancer_Homo sapiens_hsa052060.28018536
100Proteasome_Homo sapiens_hsa030500.27316024
101Ribosome_Homo sapiens_hsa030100.27289462
102Renal cell carcinoma_Homo sapiens_hsa052110.27069024
103Proteoglycans in cancer_Homo sapiens_hsa052050.27058479
104MAPK signaling pathway_Homo sapiens_hsa040100.26137024
105Choline metabolism in cancer_Homo sapiens_hsa052310.25768058
106Phosphatidylinositol signaling system_Homo sapiens_hsa040700.25711225
107Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.24019672
108Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.21569752
109Systemic lupus erythematosus_Homo sapiens_hsa053220.21365708
110Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.20718269
111Ether lipid metabolism_Homo sapiens_hsa005650.20241731
112Type II diabetes mellitus_Homo sapiens_hsa049300.18973657
113Renin-angiotensin system_Homo sapiens_hsa046140.18689068
114Inositol phosphate metabolism_Homo sapiens_hsa005620.17861276
115Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.17509764
116Nucleotide excision repair_Homo sapiens_hsa034200.16863759
117Prion diseases_Homo sapiens_hsa050200.16696064
118Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.15452023
119Ras signaling pathway_Homo sapiens_hsa040140.15051520
120Rap1 signaling pathway_Homo sapiens_hsa040150.14585504

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